Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan

Journal of Human Genetics

Volumn 54, Issue 7, 2009, Pages 377-381

  Hirano, Ryuki ^a   Takashima, Hiroshi ^a   Okubo, Ryuichi ^a   Okamoto, Yuji ^a   Maki, Yoshimitsu ^b   Ishida, Shimon ^c   Suehara, Masahito ^d   Hokezu, Youichi ^b   Arimura, Kimiyoshi ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b OITA PREFECTURAL HOSPITAL   (Japan)

^c OSAKA MEDICAL COLLEGE   (Japan)

^d National Hospital Organization Okinawa National Hospital   (Japan)

Author keywords

16q ADCA; Haplotype block; Homozygote; Microsatellite slippage; Puratrophin 1 mutation; SCA

Indexed keywords

NEUROTROPHIN; PURATROPHIN 1; TRANSCRIPTION FACTOR GATA 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLUM ATROPHY; CHROMOSOME 16Q; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; GENE DOSAGE; GENETIC ANALYSIS; GENETIC TRAIT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION;

AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, PAIR 16; GENES, DOMINANT; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; JAPAN; KAPLAN-MEIERS ESTIMATE; MICROSATELLITE REPEATS; MIDDLE AGED; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE NUCLEOTIDE; SPINOCEREBELLAR ATAXIAS; WHEELCHAIRS;

EID: 68449088763     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.44     Document Type: Article

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